When her daughter was diagnosed with Fragile X, Maria Panza says the isolation she felt was terrifying
‘IT’S LIKE a bomb has been dropped on you.”
That’s how Maria Panza from Co Kildare felt when she found out that her daughter Alesia (then aged two) had Fragile X, a genetic condition associated with a spectrum of learning difficulties, anxiety in social situations and delays in speech and language development.
The rare, inherited condition centres on the FMR-1 gene on the X chromosome and the full syndrome crops up in an estimated one in 4,000 boys and one in 6,000 girls, according to Panza.
She adds that as many as one in 130 females and one in 775 males are carriers of an FMR-1 “pre-mutation” for Fragile X, which can be linked with early menopause and Parkinson’s-like tremors in adulthood.
That pre-mutation can be passed down through families and the first anyone may know of it is when someone presents with the full syndrome, says Panza, who found out she was a carrier after Alesia was diagnosed.
“When your child is diagnosed with Fragile X this does not alone affect you and your immediate family, but has wider effects on the whole family in terms of getting tested. It opens a can of worms,” she says.
“And the isolation you feel is honestly terrifying. You have to educate yourself as much as you can – you nearly have a PhD on the subject.”
Alesia had been diagnosed with autism before getting the Fragile X diagnosis, so she already had access to interventions that have helped.
“Her diagnosis has changed from moderate to mild intellectual disability and, thankfully, she seems to be on the verge of speaking.
“She’s nearly five and I have only recently started hearing ‘Mama’ from her. I’m so happy she is finding her voice,” says Panza, who stresses the importance of early diagnosis of Fragile X through a blood test.
“The earlier the intervention, the more we can do our best to help our children catch up and not be left behind and forgotten about.”
There’s little information about how many people in Ireland have Fragile X and Panza reckons it is underdiagnosed. “Alesia was one of two children diagnosed here in 2007, there must be more,” she says.
In 2006, educational psychologist Colin Reilly found there were 32 children with Fragile X syndrome in special schools in Ireland and he estimated a further 30 in mainstream education.
“Most males would have intellectual disability and about half of the females would have intellectual disability,” says Reilly.
He notes that children with the condition may do well in school settings but that small changes can make a big difference, so it’s important to understand their behaviours and reactions, particularly where they might become highly anxious or “hyperaroused”.
“A child with Fragile X experiences excessive anxiety in certain situations and environments, and this anxiety remains quite high,” he explains.
Some children with Fragile X may reach the diagnostic criteria for autism, but for many there seem to be other underlying reasons for particular behaviours such as not wanting to make eye contact.
“A lot of the children would display behaviours associated with autism-spectrum disorder. But the reason that a child with Fragile X may have difficulty in certain social interactions can be different,” says Reilly.
“A child with Fragile X may not give eye contact because they find that particularly anxiety provoking whereas a child with autism may not give eye contact because they may not be motivated or they may not realise the importance of it in social situations.”
Accommodations in the classroom can help children with Fragile X, says Reilly.
“You need very structured educational settings with predictable routines. [The children] need to be prepared for changes, and where they are positioned in the classroom should minimise visual and auditory distractions.
“They may need a calm corner where they can retreat to if they find situations too overwhelming.”
And just knowing to sit side-on rather than face to face with a child who has difficulty with eye contact can make a difference, he adds.
“If you sit face to face the child is likely to get hyperaroused, whereas if you sit side-on, you are not asking them to look directly at you and that can make a significant difference to their ability to complete tasks,” says Reilly, who would like to see greater awareness about the condition.
“A lot of behavioural difficulties arising out of Fragile X can be prevented if you understand the need for these things.”
Colin Reilly will speak at a public seminar this weekend about the challenges and supports for parents with a child or children with Fragile X. US psychologist Dr Marcia Braden will also speak at the event, Fragile X Syndrome: From Diagnosis to Supported Living – the Shared Experienceon Saturday at 45 Merrion Square, Dublin 2. See fragilex-ireland.org
-One in 130 females and One in 775 males are carriers of an FMR-1 pre-mutation for Fragile X
